Defects in tRNA Anticodon Loop 2′-O-Methylation Are Implicated in Nonsyndromic X-Linked Intellectual Disability due to Mutations in FTSJ1

Human Mutation

Volumn 36, Issue 12, 2015, Pages 1176-1187

  Guy, Michael P ^a,g   Shaw, Marie ^b,g   Weiner, Catherine L ^a   Hobson, Lynne ^c   Stark, Zornitza ^d   Rose, Katherine ^e   Kalscheuer, Vera M ^f   Gecz, Jozef ^b   Phizicky, Eric M ^a  

^a UNIVERSITY OF ROCHESTER SCHOOL OF MEDICINE AND DENTISTRY   (United States)

^b UNIVERSITY OF ADELAIDE   (Australia)

^c WOMEN S AND CHILDREN S HOSPITAL   (Australia)

^d MURDOCH CHILDREN'S RESEARCH INSTITUTE   (Australia)

^e MONASH MEDICAL CENTRE   (Australia)

^f MAX PLANCK INSTITUTE FOR MOLECULAR GENETICS   (Germany)

^g HARVARD UNIVERSITY   (United States)

Author keywords

2 O methylation; FTSJ1; Intellectual disability; NSXLID; TRM7; TRNA

Indexed keywords

TRANSFER RNA; ANTICODON; CODON; FTSJ1 PROTEIN, HUMAN; METHYLTRANSFERASE; NUCLEAR PROTEIN; PHENYLALANINE TRANSFER RNA;

ALPHA HELIX; ANTICODON; ARTICLE; CONTROLLED STUDY; GENE FTSJ1; GENE MUTATION; GENETIC VARIABILITY; HUMAN; HUMAN CELL; INTELLECTUAL IMPAIRMENT; LOSS OF FUNCTION MUTATION; MARKER GENE; NONHUMAN; PRIORITY JOURNAL; RNA METHYLATION; RNA PURIFICATION; SACCHAROMYCES CEREVISIAE; SEQUENCE ANALYSIS; X CHROMOSOME LINKED DISORDER; ALLELE; AMINO ACID SEQUENCE; AMINO ACID SUBSTITUTION; CELL LINE; CHEMISTRY; CODON; CONFORMATION; FEMALE; GENE EXPRESSION; GENETICS; GENOTYPE; MALE; MENTAL RETARDATION, X-LINKED; METABOLISM; METHYLATION; MOLECULAR MODEL; MUTATION; PEDIGREE; PROTEIN CONFORMATION;

ALLELES; AMINO ACID SEQUENCE; AMINO ACID SUBSTITUTION; ANTICODON; CELL LINE; CODON; FEMALE; GENE EXPRESSION; GENOTYPE; HUMANS; MALE; MENTAL RETARDATION, X-LINKED; METHYLATION; METHYLTRANSFERASES; MODELS, MOLECULAR; MUTATION; NUCLEAR PROTEINS; NUCLEIC ACID CONFORMATION; PEDIGREE; PROTEIN CONFORMATION; RNA, TRANSFER; RNA, TRANSFER, PHE; SACCHAROMYCES CEREVISIAE;

EID: 84947031580     PISSN: 10597794     EISSN: 10981004     Source Type: Journal    
DOI: 10.1002/humu.22897     Document Type: Article

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